Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.504
Filtrar
1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782152

RESUMO

PURPOSE: To identify the paternal factors responsible for aberrant embryo development leading to loss of foetus in recurrent pregnancy loss (RPL) through proteomic analysis of ejaculated spermatozoa.MATERIALS AND METHODS: This prospective study consisted of male partners of RPL patients (n=16) experienced with two or more consecutive unexplained miscarriages and with no female factor abnormality as revealed by gynaecologic investigation including karyotyping and age matched fertile healthy volunteers (n=20). All samples were collected during 2013 to 2015 after getting institutional ethical approval and written consent from the participants. Seminal ejaculates were collected by masturbation after 2 to 3 days of sexual abstinence and analyzed according to World Health Organization 5th criteria 2010. Two-dimensional difference gel electrophoresis followed by mass spectrophotometric analysis was used to identify differentially expressed proteins (DEPs). Western blotting was used for validation of the key proteins.RESULTS: The data identified 36 protein spots to be differentially expressed by more than 2-fold change with p<0.05 considered as significant. Matrix-assisted laser desorption/ionization time of flight/mass spectrometry identified GPx4, JIP4, ZN248 to be overexpressed while HSPA2, GSTM5, TF3C1, CC74A was underexpressed in RPL group. Western blot analysis confirmed the differential expression of key redox associated proteins GPx4 and HSPA2 in the RPL group. Functional analysis revealed the involvement of key biological processes that includes spermatogenesis, response to oxidative stress, protein folding and metabolic process.CONCLUSIONS: The present study provides a snapshot of the altered protein expression levels consistent with the potential involvement of the sperm chromatin landscape in early embryonic development.


Assuntos
Aborto Espontâneo , Fenômenos Biológicos , Western Blotting , Cromatina , Perda do Embrião , Desenvolvimento Embrionário , Feminino , Voluntários Saudáveis , Humanos , Cariotipagem , Masculino , Masturbação , Metabolismo , Oxirredução , Estresse Oxidativo , Gravidez , Estudos Prospectivos , Dobramento de Proteína , Proteômica , Abstinência Sexual , Análise Espectral , Espermatogênese , Espermatozoides , Eletroforese em Gel Diferencial Bidimensional , Organização Mundial da Saúde
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781306

RESUMO

OBJECTIVE@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*METHODS@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*RESULTS@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation.@*CONCLUSION@#The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.


Assuntos
Síndrome de Dandy-Walker , Diagnóstico , Genética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Translocação Genética
3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781299

RESUMO

OBJECTIVE@#To determine the frequency, common chromosomal karyotypes and breakpoints, and involved regions among carriers of reciprocal translocations from Henan Province, and to explore the influence of common breakpoint regions on pregnancy and fetal development.@*METHODS@#For 586 carriers of reciprocal translocations, the above features were retrospectively analyzed.@*RESULTS@#The 586 reciprocal translocations were identified among 62 477 subjects, which yielded a frequency of 0.94%. Among these, 572 (0.92%) had abnormal fertility, and 14 (0.02%) had a history of abnormal fetal development. Statistical analysis showed that chromosomes 1, 4, 7 and 11 were most frequently involved, with t(11;22)(q25;q13) being the most common type of translocation. In total 437 breakpoint regions were identified, with 11q23, 22q13 and 1p36 being most frequently involved, which resulted in infertility, abortion, embryo death, congenital malformation, development delay, mental retardation or a normal phenotype.@*CONCLUSION@#Above results indicated a 0.92% carrier rate for reciprocal chromosomal translocations in Henan. The location of breakpoint regions may affect the pregnancy and/or fetal development. Discovery of such regions may enable more accurate genetic, reproductive and developmental counseling for carriers, and provide reference for delineation of function and pathogenetic mechanism of the relevant genes.


Assuntos
Pontos de Quebra do Cromossomo , Feminino , Heterozigoto , Humanos , Cariótipo , Cariotipagem , Gravidez , Estudos Retrospectivos , Translocação Genética , Genética
4.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781297

RESUMO

OBJECTIVE@#To explore the genetic basis for a family affected with congenital heart defects.@*METHODS@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*RESULTS@#G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*CONCLUSION@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 8 , Genética , Fator de Transcrição GATA4 , Genética , Testes Genéticos , Cardiopatias Congênitas , Genética , Humanos , Cariotipagem
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781296

RESUMO

OBJECTIVE@#To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion.@*METHODS@#G+R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments.@*RESULTS@#The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13.@*CONCLUSION@#Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del(13)(q14), -13 or der(13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.


Assuntos
Células Cultivadas , Cromossomos Humanos Par 11 , Genética , Humanos , Hibridização in Situ Fluorescente , Interfase , Cariotipagem , Leucemia Mieloide Aguda , Genética , Metáfase , Translocação Genética
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781295

RESUMO

OBJECTIVE@#To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*METHODS@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members.@*RESULTS@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*CONCLUSION@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.


Assuntos
Anormalidades Múltiplas , Genética , Adulto , Pré-Escolar , China , Duplicação Cromossômica , Cromossomos Humanos Par 17 , Genética , Deficiências do Desenvolvimento , Genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Proteínas Associadas aos Microtúbulos , Translocação Genética
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781292

RESUMO

OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Cromossomos Humanos Par 15 , Genética , Deficiências do Desenvolvimento , Genética , Feminino , Humanos , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal
8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-819035

RESUMO

OBJECTIVE@#To conduct genetic analysis in a fetus with complex translocation of four chromosomes.@*METHODS@#G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents.@*RESULTS@#The fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array were inconsistent. FISH analyses on the parental peripheral blood samples demonstrated that the mother was a cryptic 46, XX, t(1; 15)(q42.1; q26.1) translocation. The fetus had inherited 46, XY, t(12; 13)(q22; q32) from his father and der(15)t(1; 15)(q42.1; q26.1) from his mother.@*CONCLUSIONS@#The 1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the abnormal sonographic features of the fetus. The combination of cytogenetic, SNP array and FISH techniques was beneficial for providing an accurate genetic counseling.


Assuntos
Aberrações Cromossômicas , Feminino , Feto , Anormalidades Congênitas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Polimorfismo de Nucleotídeo Único , Translocação Genética
9.
Journal of Experimental Hematology ; (6): 1717-1721, 2019.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781407

RESUMO

OBJECTIVE@#To investigate the efficacy and prognosis of acute myeloid leukemia (AML) patients with chromosome karyotype abnormalities.@*METHODS@#The clinical features and treatment responses of 91 patients with AML were collected and analyzed retrospectively. The efficacy and survival rate of the AML patients with normal and abnormal chromosome karyotype were compared.@*RESULTS@#Chromosome translocations and monosomal karyotypes were the main heterogeneity of AML. There was no significant difference in complete remission rate and overall response rate between the normal and abnormal karyotype groups, but the recurrence rate was higher in abnormal karyotype group. There was no significant difference in response of AML patients received the standard "3+7 regimen" and pre-excitation chemotherapy in the treatment of normal and abnormal karyotype groups. The relapse free survival time (RFS) was longer in the normal karyotype group, but there was no significant difference in overall survival time (OS).@*CONCLUSION@#The abnormal karyotype of AML is an independent prognostic factor, monosomal karyotype shows a poor prognosis, and the recurrence rate in AML patients with monosomal karyotype is higher.


Assuntos
Adulto , Aberrações Cromossômicas , Humanos , Cariótipo , Cariotipagem , Leucemia Mieloide Aguda , Prognóstico , Estudos Retrospectivos
10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781317

RESUMO

OBJECTIVE@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*METHODS@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*RESULTS@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat.@*CONCLUSION@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.


Assuntos
Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Feminino , Testes Genéticos , Humanos , Hipospadia , Genética , Hibridização in Situ Fluorescente , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Polimorfismo de Nucleotídeo Único , Gravidez , Translocação Genética
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781313

RESUMO

OBJECTIVE@#To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.@*METHODS@#The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.@*RESULTS@#G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.@*CONCLUSION@#Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.


Assuntos
Anormalidades Múltiplas , Genética , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Transtornos Cromossômicos , Cromossomos Humanos Par 13 , Genética , Humanos , Cariotipagem , Masculino
12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781312

RESUMO

OBJECTIVE@#To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.@*METHODS@#The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.@*RESULTS@#The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333-43 189 376).@*CONCLUSION@#The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.


Assuntos
Adulto , Bandeamento Cromossômico , Deficiências do Desenvolvimento , Genética , Testes Genéticos , Cardiopatias Congênitas , Genética , Humanos , Cariotipagem , Mosaicismo , Fenótipo , Polimorfismo de Nucleotídeo Único , Dissomia Uniparental
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781311

RESUMO

OBJECTIVE@#To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.@*METHODS@#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.@*RESULTS@#The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.@*CONCLUSION@#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Bandeamento Cromossômico , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal
14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-758894

RESUMO

With the increased use of cell therapy in the veterinary sector, there is a growing demand for the development of cell-based medicinal products and the determination of their safety. Currently, the Korean Animal and Plant Quarantine Agency has established a guideline for evaluating the safety of cell-based medicinal products for animal use. The guideline includes items related to definition, classification, management, manufacturing procedure and quality control (standard and test method), stability testing, toxicity testing, pharmacological testing, and performance of clinical trials. In addition, testing protocols related to safety assessment of animal cell-based products such as chromosome karyotyping, tumorigenicity testing, confirmatory testing of biodistribution and kinetics, and target animal safety testing are described in detail. Moreover, because cell-based medicinal products are novel therapies, deviations from traditional designs may be justified in order to obtain relevant safety information on the treatment. Additionally, this guideline can be amended on the basis of new scientific findings.


Assuntos
Animais , Testes de Carcinogenicidade , Terapia Baseada em Transplante de Células e Tecidos , Classificação , Cariotipagem , Cinética , Plantas , Controle de Qualidade , Quarentena , Testes de Toxicidade
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764511

RESUMO

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. RESULTS: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was 23.1±7.8 years (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. CONCLUSION: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.


Assuntos
Amenorreia , Cristianismo , Aberrações Cromossômicas , Diagnóstico , Feminino , Hormônio Foliculoestimulante , Humanos , Infertilidade , Cariótipo , Cariotipagem , Menarca , Menstruação , Oligomenorreia , Fenótipo , Estudos Retrospectivos , Desenvolvimento Sexual , Trissomia , Síndrome de Turner
16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776825

RESUMO

OBJECTIVE@#To explore the genetic basis of a child featuring intellectual disability, developmental delay and epilepsy.@*METHODS@#Cytogenetic and molecular analysis including chromosomal karyotyping analysis, single nucleotide polymorphism array (SNP array) and qPCR were performed.@*RESULTS@#The karyotype of the child was determined as 46, XX; SNP array: arr [19]21q22.12q22.13(36 860 195-38 801 482)×1 dn. A heterozygous 1.9 Mb microdeletion was detected at 21q22.12q22.13. qPCR has confirmed deletion of exon 1 of the DYRK1A gene, which has occurred de novo.@*CONCLUSION@#A 21q22 deletion was diagnosed with multiple genetic methods. Genotype-phenotype correlation suggested DYRK1A to be a candidate for intellectual disability.


Assuntos
Criança , Deficiências do Desenvolvimento , Genética , Epilepsia , Genética , Estudos de Associação Genética , Humanos , Deficiência Intelectual , Genética , Cariotipagem , Proteínas Serina-Treonina Quinases , Genética , Proteínas Tirosina Quinases , Genética , Deleção de Sequência
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776820

RESUMO

OBJECTIVE@#To explore the molecular mechanism of a girl with developmental delay and intellectual disability.@*METHODS@#Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.@*RESULTS@#No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.@*CONCLUSION@#The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.


Assuntos
Criança , Deleção Cromossômica , Duplicação Cromossômica , Cromossomos Humanos Par 17 , Genética , Hibridização Genômica Comparativa , Feminino , Humanos , Cariotipagem , Síndrome de Smith-Magenis , Genética
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776799

RESUMO

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.@*METHODS@#Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.@*RESULTS@#The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal.@*CONCLUSION@#3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.


Assuntos
Cromossomos Humanos Par 3 , Genética , Hibridização Genômica Comparativa , Feminino , Feto , Humanos , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Trissomia
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776796

RESUMO

OBJECTIVE@#To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID).@*METHODS@#The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome.@*CONCLUSION@#Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.


Assuntos
Deleção Cromossômica , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual , Síndrome da Deleção Distal 11q de Jacobsen , Diagnóstico , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776761

RESUMO

OBJECTIVE@#To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.@*METHODS@#Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).@*RESULTS@#Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46,XX,t(4;8)(p16;p23). No karyotypic abnormality was detected in his father.@*CONCLUSION@#The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.


Assuntos
Aberrações Cromossômicas , Duplicação Cromossômica , Cromossomos Humanos Par 4 , Cromossomos Humanos Par 8 , Feminino , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual , Genética , Cariotipagem , Linhagem , Fenótipo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA